Fig. 3

Molecular characterization of an in-frame RB1-SIAH3 fusion in a pediatric intracranial retinoblastoma. a Sanger sequencing chromatogram of the in-frame RB1-SIAH3 gene fusion. The corresponding amino acid sequence is described above the chromatogram. b Protein domains corresponding to the RB1-SIAH3 fusion, demonstrating loss of the RB1 linker domain and pocket domain B. c RNA sequencing read coverage for RB1 (NM_000321) binned per exon. A dramatic loss of RB1 expression occurs between exons 17 (black arrowhead) and 18 at the fusion breakpoint